Myosin heavy-chain myopathy in 2 American quarter horses

Vet Pathol. 2024 May;61(3):462-467. doi: 10.1177/03009858231204253. Epub 2023 Oct 11.

Abstract

A 1.5-year-old American quarter horse gelding (case 1) and an 11-month-old American quarter horse filly (case 2) were presented for acute onset pelvic lameness and lethargy. Case 1 had nasal discharge, while case 2 developed rapid muscle atrophy. Both horses had elevated serum creatine kinase activity. The horses showed similar polyphasic histiocytic and lymphoplasmacytic myositis with necrosis, mineralization, and regeneration. Additionally, case 1 had Streptococcus equi subsp. equi-induced suppurative retropharyngeal lymphadenitis with renal purpura hemorrhagica and myoglobinuric nephropathy. A focal pulmonary abscess caused by Actinobacillus equuli was found in case 2. Genetic testing revealed case 1 as heterozygous and case 2 as homozygous for the E321G MYH1 variant, supporting the diagnosis of myosin heavy-chain myopathy, with concomitant bacterial disease as potential triggers.

Keywords: Actinobacillus equuli; MYH1; Streptococcus equi subsp. equi; horse; immune-mediated myositis; myosin heavy chain 1; myosin heavy-chain myopathy.

Publication types

  • Case Reports

MeSH terms

  • Animals
  • Female
  • Horse Diseases* / diagnosis
  • Horse Diseases* / microbiology
  • Horse Diseases* / pathology
  • Horses
  • Male
  • Muscle, Skeletal / pathology
  • Muscular Diseases* / genetics
  • Muscular Diseases* / pathology
  • Muscular Diseases* / veterinary
  • Myosin Heavy Chains* / genetics
  • Streptococcal Infections / pathology
  • Streptococcal Infections / veterinary
  • Streptococcus equi / genetics
  • Streptococcus equi / isolation & purification

Substances

  • Myosin Heavy Chains